Bckdha (branched chain keto acid dehydrogenase E1 subunit alpha) - Rat Genome Database

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Gene: Bckdha (branched chain keto acid dehydrogenase E1 subunit alpha) Rattus norvegicus
Analyze
Symbol: Bckdha
Name: branched chain keto acid dehydrogenase E1 subunit alpha
RGD ID: 2196
Description: Predicted to enable 2-oxoisovalerate dehydrogenase (acylating) activity. Predicted to contribute to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. Involved in response to cAMP; response to glucocorticoid; and response to nutrient. Predicted to be part of mitochondrial alpha-ketoglutarate dehydrogenase complex. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; INTERACTS WITH (+)-schisandrin B; 1,2,4-trimethylbenzene; 1-naphthyl isothiocyanate.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; BCKDA; BCKDE1A; BCKDH E1-alpha; Branched chain alpha-ketoacid dehydrogenase subunit E1 alpha; branched chain keto acid dehydrogenase subunit E1, alpha polypeptide; branched chain ketoacid dehydrogenase E1, alpha polypeptide; branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; E1a
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2181,138,946 - 81,167,765 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl181,138,947 - 81,167,862 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx186,531,142 - 86,559,905 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0195,083,063 - 95,111,555 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0188,286,937 - 88,315,700 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0182,423,291 - 82,452,094 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl182,423,277 - 82,452,281 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0183,684,796 - 83,713,671 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4180,837,906 - 80,866,672 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1180,916,017 - 80,944,767 (-)NCBI
Celera175,579,300 - 75,595,435 (-)NCBICelera
Cytogenetic Map1q21NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (EXP)
1,1-dichloroethene  (ISO)
1,2,4-trimethylbenzene  (EXP)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (EXP)
3-chloropropane-1,2-diol  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (EXP)
acetamide  (EXP)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (ISO)
amiodarone  (EXP)
amitrole  (EXP)
ammonium chloride  (EXP)
atrazine  (EXP,ISO)
benzo[a]pyrene  (ISO)
Benzo[ghi]perylene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (ISO)
carbon nanotube  (ISO)
CGP 52608  (ISO)
chloroprene  (EXP)
chlorpyrifos  (ISO)
cisplatin  (ISO)
clofibrate  (EXP,ISO)
clotrimazole  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (ISO)
dioxygen  (ISO)
furan  (EXP)
genistein  (ISO)
gentamycin  (EXP)
ivermectin  (ISO)
ketamine  (EXP)
methapyrilene  (EXP)
N-nitrosomorpholine  (EXP)
okadaic acid  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
phenylephrine  (EXP)
pirinixic acid  (EXP,ISO)
propiconazole  (EXP)
quercetin  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
streptozocin  (ISO)
sulforaphane  (ISO)
tamoxifen  (ISO)
temozolomide  (ISO)
tetrachloromethane  (EXP,ISO)
tetracycline  (EXP)
thioacetamide  (EXP)
topotecan  (ISO)
triadimefon  (EXP)
trichloroethene  (EXP)
tunicamycin  (ISO)
valproic acid  (ISO)
vancomycin  (ISO)
vinclozolin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Regulation of gene expression of branched-chain keto acid dehydrogenase complex in primary cultured hepatocytes by dexamethasone and a cAMP analog. Chicco AG, etal., J Biol Chem. 1994 Jul 29;269(30):19427-34.
2. Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. Chuang JL, etal., Am J Hum Genet 1994 Aug;55(2):297-304.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
5. Posttranscriptional alterations in protein masses of hepatic branched-chain keto acid dehydrogenase and its associated kinase in diabetes. Lombardo YB, etal., Proc Assoc Am Physicians. 1998 Jan-Feb;110(1):40-9.
6. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
7. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
11. GOA pipeline RGD automated data pipeline
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. Comprehensive gene review and curation RGD comprehensive gene curation
15. Purification of branched chain alpha-ketoacid dehydrogenase complex from rat liver. Shimomura Y, etal., Anal Biochem. 1987 May 15;163(1):74-8.
16. Tentative Sequence Identification Numbers Tentative Sequence Data IDs. TIGR Gene Index, Rat Data
17. Molecular cloning of a cDNA for the E1 alpha subunit of rat liver branched chain alpha-ketoacid dehydrogenase. Zhang B, etal., J Biol Chem 1987 Nov 5;262(31):15220-4.
18. Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease. Zhang B, etal., Mol Biol Med 1991 Feb;8(1):39-47.
19. Effect of dietary protein on the liver content and subunit composition of the branched-chain alpha-ketoacid dehydrogenase complex. Zhao Y, etal., Arch Biochem Biophys. 1994 Feb 1;308(2):446-53.
Additional References at PubMed
PMID:7883996   PMID:12477932   PMID:14651853   PMID:16396499   PMID:18614015   PMID:20833797   PMID:24625528   PMID:25193403   PMID:26035971   PMID:26316108   PMID:29476059   PMID:36802195  


Genomics

Comparative Map Data
Bckdha
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2181,138,946 - 81,167,765 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl181,138,947 - 81,167,862 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx186,531,142 - 86,559,905 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0195,083,063 - 95,111,555 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0188,286,937 - 88,315,700 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0182,423,291 - 82,452,094 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl182,423,277 - 82,452,281 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0183,684,796 - 83,713,671 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4180,837,906 - 80,866,672 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1180,916,017 - 80,944,767 (-)NCBI
Celera175,579,300 - 75,595,435 (-)NCBICelera
Cytogenetic Map1q21NCBI
BCKDHA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381941,397,818 - 41,425,002 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1941,397,808 - 41,425,002 (+)EnsemblGRCh38hg38GRCh38
GRCh371941,903,723 - 41,930,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361946,595,544 - 46,622,750 (+)NCBINCBI36Build 36hg18NCBI36
Build 341946,595,543 - 46,622,749NCBI
Celera1938,703,549 - 38,730,745 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1938,335,417 - 38,362,686 (+)NCBIHuRef
CHM1_11941,903,371 - 41,930,595 (+)NCBICHM1_1
T2T-CHM13v2.01944,219,041 - 44,246,226 (+)NCBIT2T-CHM13v2.0
Bckdha
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39725,329,371 - 25,358,178 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl725,329,371 - 25,358,406 (-)EnsemblGRCm39 Ensembl
GRCm38725,629,852 - 25,658,782 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl725,629,946 - 25,658,981 (-)EnsemblGRCm38mm10GRCm38
MGSCv37726,414,871 - 26,443,780 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36725,338,706 - 25,367,498 (-)NCBIMGSCv36mm8
Celera720,238,873 - 20,267,674 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map713.94NCBI
Bckdha
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955555333,642 - 358,799 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955555334,253 - 357,417 (+)NCBIChiLan1.0ChiLan1.0
BCKDHA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11949,477,013 - 49,504,623 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01938,391,618 - 38,418,826 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11946,898,024 - 46,925,171 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1946,898,024 - 46,925,171 (+)Ensemblpanpan1.1panPan2
BCKDHA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11112,579,345 - 112,599,163 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1111,983,522 - 112,003,339 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01113,177,443 - 113,197,277 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1113,175,101 - 113,213,830 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11112,738,731 - 112,758,552 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01112,371,075 - 112,390,893 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01113,364,328 - 113,384,163 (-)NCBIUU_Cfam_GSD_1.0
Bckdha
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934915,371,915 - 15,389,480 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366613,799,955 - 3,819,851 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049366613,799,998 - 3,817,560 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCKDHA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl649,381,967 - 49,398,743 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1649,381,995 - 49,398,745 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2645,273,884 - 45,290,452 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BCKDHA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1635,717,679 - 35,747,245 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl635,717,694 - 35,751,098 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607313,954,030 - 13,983,378 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bckdha
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624907203,992 - 228,488 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624907203,819 - 225,334 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Bckdha
145 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:78
Count of miRNA genes:69
Interacting mature miRNAs:76
Transcripts:ENSRNOT00000027995
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1554320Bmd1Bone mineral density QTL 112.20.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)150910886060548Rat
631688Hcas2Hepatocarcinoma susceptibility QTL 230.0001liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)15925874115540829Rat
2313062Bmd73Bone mineral density QTL 733.90.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)11148131282174945Rat
2313065Bss67Bone structure and strength QTL 673.10.0001tibia area (VT:1000281)tibia total energy absorbed before break (CMO:0001736)11148131282174945Rat
2313069Bss68Bone structure and strength QTL 682.90.0001tibia size trait (VT:0100001)tibia total energy absorbed before break (CMO:0001736)11148131282174945Rat
2313075Bss66Bone structure and strength QTL 663.40.0001tibia length (VT:0004357)tibia length (CMO:0000450)11148131282174945Rat
2313077Bss69Bone structure and strength QTL 693.50.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)11148131282174945Rat
2313092Bmd72Bone mineral density QTL 722.50.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)11148131282174945Rat
2313097Bss70Bone structure and strength QTL 703.50.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)11148131282174945Rat
631495Bp96Blood pressure QTL 964.52arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)122340647102268831Rat
1358359Sradr1Stress Responsive Adrenal Weight QTL 14.74adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)130882023123479925Rat
70225Bp58Blood pressure QTL 583.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132356093162846471Rat
1300172Bp172Blood pressure QTL 1723.56arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)13273727390665040Rat
10059597Bp377Blood pressure QTL 3773.420.025arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132737458199368955Rat
2313051Bss57Bone structure and strength QTL 573.70.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)143284731118944897Rat
2313059Bss55Bone structure and strength QTL 553.20.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313072Bss53Bone structure and strength QTL 534.30.0001tibia length (VT:0004357)tibia length (CMO:0000450)143284731118944897Rat
2313078Bss54Bone structure and strength QTL 543.50.0001tibia area (VT:1000281)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313094Bss58Bone structure and strength QTL 583.70.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)143284731118944897Rat
2313098Bmd70Bone mineral density QTL 703.60.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)143284731118944897Rat
2313099Bss56Bone structure and strength QTL 562.40.0001tibia size trait (VT:0100001)tibia midshaft endosteal cross-sectional area (CMO:0001716)143284731118944897Rat
2302059Pia36Pristane induced arthritis QTL 363.80.001blood immunoglobulin amount (VT:0002460)serum immunoglobulin G1 level (CMO:0002115)14333300288333002Rat
2313402Anxrr24Anxiety related response QTL 24aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)148963584144267916Rat
4889962Bss94Bone structure and strength QTL 943.8tibia area (VT:1000281)tibia-fibula cortical bone endosteal cross-sectional area (CMO:0001722)14936146582174945Rat
1578649Bmd8Bone mineral density QTL 84.9femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)14939317294393172Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)149393172159356837Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)149393289199050459Rat
6903308Scl36Serum cholesterol QTL 3620.0125blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)15386304190532583Rat
4889919Bss86Bone structure and strength QTL 864.1tibia area (VT:1000281)tibia midshaft total cross-sectional area (CMO:0001715)15389511782174945Rat
4889929Bss87Bone structure and strength QTL 876.7tibia area (VT:1000281)tibia-fibula cortical bone endosteal cross-sectional area (CMO:0001722)15389511782174945Rat
61342Bp27Blood pressure QTL 273.40.0006arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)15673266898773277Rat
2300164Bmd44Bone mineral density QTL 445.40.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)156949932101949932Rat
2298545Neuinf8Neuroinflammation QTL 84.6nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)157336763151090257Rat
1300121Hrtrt1Heart rate QTL 13.7heart pumping trait (VT:2000009)heart rate (CMO:0000002)165789093115540829Rat
7421628Bp361Blood pressure QTL 3610.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)166023617118608521Rat
631512Scl6Serum cholesterol level QTL 69.6blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)17219768090508767Rat
1358192Ept13Estrogen-induced pituitary tumorigenesis QTL 133.4pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)177494165122494165Rat
10054135Gmadr2Adrenal mass QTL 21.970.0129adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)177857876122857876Rat
1549903Bp267Blood pressure QTL 267arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)177876254106047988Rat
61344Bp29Blood pressure QTL 297.5arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)178350581123350581Rat
7411712Strs4Sensitivity to stroke QTL 48.7cerebrum integrity trait (VT:0010549)percentage of study population developing cerebrovascular lesions during a period of time (CMO:0000932)178430536123430536Rat
61433Cia2Collagen induced arthritis QTL 25joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)17843075491209302Rat
1582234Gluco18Glucose level QTL 183.40.0003blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)178479925123479925Rat
4889494Scort2Serum corticosterone level QTL 24.2blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)180592172125592172Rat

Markers in Region
D1Rat97  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2181,169,450 - 81,169,607 (+)MAPPERmRatBN7.2
Rnor_6.0182,453,792 - 82,453,948NCBIRnor6.0
Rnor_5.0183,715,300 - 83,715,456UniSTSRnor5.0
RGSC_v3.4180,868,407 - 80,868,564RGDRGSC3.4
RGSC_v3.4180,868,408 - 80,868,564UniSTSRGSC3.4
RGSC_v3.1180,946,519 - 80,946,675RGD
Celera175,609,187 - 75,609,343UniSTS
RH 3.4 Map1825.5RGD
RH 3.4 Map1825.5UniSTS
RH 2.0 Map1500.3RGD
FHH x ACI Map142.3299RGD
Cytogenetic Map1q21UniSTS
D1Bda6  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2181,139,043 - 81,139,261 (+)MAPPERmRatBN7.2
Rnor_6.0182,423,389 - 82,423,606NCBIRnor6.0
Rnor_5.0183,684,894 - 83,685,111UniSTSRnor5.0
RGSC_v3.4180,838,004 - 80,838,221UniSTSRGSC3.4
Celera175,579,398 - 75,579,615UniSTS
Cytogenetic Map1q21UniSTS
BE119497  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2181,166,774 - 81,166,968 (+)MAPPERmRatBN7.2
Rnor_6.0182,451,116 - 82,451,309NCBIRnor6.0
Rnor_5.0183,712,624 - 83,712,817UniSTSRnor5.0
RGSC_v3.4180,865,731 - 80,865,924UniSTSRGSC3.4
Celera175,607,191 - 75,607,385UniSTS
RH 3.4 Map1827.2UniSTS
Cytogenetic Map1q21UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 43 57 41 19 41 8 11 74 35 41 11 8
Low
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000027995   ⟹   ENSRNOP00000027995
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl181,138,947 - 81,167,862 (-)Ensembl
Rnor_6.0 Ensembl182,423,277 - 82,452,281 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000095163   ⟹   ENSRNOP00000087713
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl181,138,947 - 81,151,280 (-)Ensembl
RefSeq Acc Id: NM_012782   ⟹   NP_036914
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2181,138,946 - 81,167,716 (-)NCBI
Rnor_6.0182,423,291 - 82,452,057 (-)NCBI
Rnor_5.0183,684,796 - 83,713,671 (-)NCBI
RGSC_v3.4180,837,906 - 80,866,672 (-)RGD
Celera175,579,300 - 75,595,435 (-)RGD
Sequence:
RefSeq Acc Id: XM_017588814   ⟹   XP_017444303
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2181,138,946 - 81,167,752 (-)NCBI
Rnor_6.0182,423,291 - 82,452,094 (-)NCBI
Sequence:
RefSeq Acc Id: XM_039101525   ⟹   XP_038957453
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2181,138,946 - 81,167,765 (-)NCBI
RefSeq Acc Id: XM_039101526   ⟹   XP_038957454
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2181,138,946 - 81,159,589 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_036914   ⟸   NM_012782
- UniProtKB: P11960 (UniProtKB/Swiss-Prot),   B1WBN3 (UniProtKB/TrEMBL),   Q5EB89 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_017444303   ⟸   XM_017588814
- Peptide Label: isoform X1
- UniProtKB: P11960 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSRNOP00000027995   ⟸   ENSRNOT00000027995
RefSeq Acc Id: XP_038957453   ⟸   XM_039101525
- Peptide Label: isoform X2
- UniProtKB: P11960 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_038957454   ⟸   XM_039101526
- Peptide Label: isoform X3
- UniProtKB: A6J973 (UniProtKB/TrEMBL),   Q5EB89 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000087713   ⟸   ENSRNOT00000095163
Protein Domains
Dehydrogenase E1 component

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11960-F1-model_v2 AlphaFold P11960 1-441 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:2196 AgrOrtholog
BioCyc Gene G2FUF-60375 BioCyc
BioCyc Pathway ILEUDEG-PWY [L-isoleucine degradation I] BioCyc
  LEU-DEG2-PWY [L-leucine degradation I] BioCyc
  PWY-5046 [2-oxoisovalerate decarboxylation to isobutanoyl-CoA] BioCyc
  PWY-5130 [2-oxobutanoate degradation I] BioCyc
  PWY66-428 [L-threonine degradation V] BioCyc
  VALDEG-PWY [L-valine degradation I] BioCyc
Ensembl Genes ENSRNOG00000020607 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000027995 ENTREZGENE
  ENSRNOP00000027995.6 UniProtKB/TrEMBL
  ENSRNOP00000087713 ENTREZGENE
  ENSRNOP00000087713.1 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000027995 ENTREZGENE
  ENSRNOT00000027995.7 UniProtKB/TrEMBL
  ENSRNOT00000095163 ENTREZGENE
  ENSRNOT00000095163.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.970 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7305384 IMAGE-MGC_LOAD
  IMAGE:9099948 IMAGE-MGC_LOAD
InterPro DH_E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THDP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:25244 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGC_CLONE MGC:109190 IMAGE-MGC_LOAD
  MGC:187269 IMAGE-MGC_LOAD
NCBI Gene 25244 ENTREZGENE
PANTHER 2-OXOISOVALERATE DEHYDROGENASE SUBUNIT ALPHA, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43380:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam E1_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Bckdha PhenoGen
Superfamily-SCOP SSF52518 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGR TC218941
UniProt A0A8I6GGA5_RAT UniProtKB/TrEMBL
  A6J973 ENTREZGENE, UniProtKB/TrEMBL
  A6J974_RAT UniProtKB/TrEMBL
  B1WBN3 ENTREZGENE, UniProtKB/TrEMBL
  F7EV94_RAT UniProtKB/TrEMBL
  ODBA_RAT UniProtKB/Swiss-Prot, ENTREZGENE
  Q5EB89 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-09 Bckdha  branched chain keto acid dehydrogenase E1 subunit alpha  Bckdha  branched chain ketoacid dehydrogenase E1, alpha polypeptide  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2004-09-10 Bckdha  branched chain ketoacid dehydrogenase E1, alpha polypeptide    branched chain keto acid dehydrogenase subunit E1, alpha polypeptide  Name updated 1299863 APPROVED
2003-04-09 Bckdha  branched chain keto acid dehydrogenase subunit E1, alpha polypeptide    Branched chain alpha-ketoacid dehydrogenase subunit E1 alpha  Name updated 629478 APPROVED
2002-06-10 Bckdha  Branched chain alpha-ketoacid dehydrogenase subunit E1 alpha      Symbol and Name status set to approved 70586 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_expression expressed in liver and muscle 631719
gene_function dehydrogenase 631719
gene_protein 18.0 kb 631719